Linked Data
ClinVar Variation Id:
518155
ClinVar RCV Id:
RCV000604632
dbSNP Id:
rs755923535
gnomAD v2:
14-90866458-G-T
gnomAD v4:
14-90400114-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.90400114G>T , CM000676.2:g.90400114G>T | GRCh38 |
| NC_000014.8:g.90866458G>T , CM000676.1:g.90866458G>T | GRCh37 |
| NC_000014.7:g.89936211G>T | NCBI36 |
| NG_013338.1:g.8132G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356978.9:c.34+19G>T MANE Select | ENSP00000349467.4:n.34+19G>T | |
| ENST00000447653.8:c.-75+19G>T | ENSP00000403491.4:n.-75+19G>T | |
| ENST00000659177.1:c.-75+19G>T | ENSP00000499421.1:n.-75+19G>T | |
| ENST00000663135.1:c.-75+19G>T | ENSP00000499498.1:n.-75+19G>T | |
| ENST00000356978.8:c.34+19G>T | ENSP00000349467.4:n.34+19G>T | |
| ENST00000447653.7:c.37+19G>T | ENSP00000403491.3:n.37+19G>T | |
| ENST00000544280.6:c.-75+19G>T | ENSP00000442853.2:n.-75+19G>T | |
| ENST00000553542.5:c.-75+19G>T | ENSP00000450829.1:n.-75+19G>T | |
| ENST00000553630.1:c.34+19G>T | ENSP00000451646.1:n.34+19G>T | |
| ENST00000553964.5:n.2164+19G>T | ||
| ENST00000553995.5:n.233+19G>T | ||
| ENST00000555267.1:n.118+19G>T | ||
| ENST00000556757.5:n.233+19G>T | ||
| ENST00000557020.5:c.-75+19G>T | ENSP00000451062.1:n.-75+19G>T | |
| ENST00000557123.5:n.252G>T | ||
| ENST00000626705.2:c.34+19G>T | ENSP00000486402.1:n.34+19G>T | |
| NM_006888.4:c.34+19G>T | NP_008819.1:n.34+19G>T | |
| XM_006720258.2:c.37+19G>T | XP_006720321.1:n.37+19G>T | |
| NM_001363669.1:c.-75+19G>T | NP_001350598.1:n.-75+19G>T | |
| NM_001363670.1:c.37+19G>T | NP_001350599.1:n.37+19G>T | |
| NM_006888.5:c.34+19G>T | NP_008819.1:n.34+19G>T | |
| NM_006888.6:c.34+19G>T MANE Select | NP_008819.1:n.34+19G>T | |
| NM_001363669.2:c.-75+19G>T | NP_001350598.1:n.-75+19G>T | |
| NM_001363670.2:c.37+19G>T | NP_001350599.1:n.37+19G>T |